Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Arthralgias
Very frequent (80-99%)HP:0002829
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Decreased activity of gonads
Very frequent (80-99%)HP:0000135
Dental problems
Very frequent (80-99%)HP:0000164
Dry skin
Very frequent (80-99%)HP:0000958
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Freckling
Very frequent (80-99%)HP:0001480
Intellectual impairment
Very frequent (80-99%)HP:0100543
Mental deterioration in childhood
Very frequent (80-99%)HP:0002376
Optic atrophy
Very frequent (80-99%)HP:0000648
Pachydermia
Very frequent (80-99%)HP:0001072
Poikiloderma
Very frequent (80-99%)HP:0001029
Poor school performance
Very frequent (80-99%)HP:0001249
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Pyrexia
Very frequent (80-99%)HP:0001945
Small dilated blood vessels near membrane covering front of eye and eyelids
Very frequent (80-99%)HP:0000524
Spider veins
Very frequent (80-99%)HP:0001009
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Thin skin
Very frequent (80-99%)HP:0000963
Tiredness
Very frequent (80-99%)HP:0012378
Cataract
Frequent (30-79%)HP:0000518
Corneal inflammation
Frequent (30-79%)HP:0000491
Cryptorchidism
Frequent (30-79%)HP:0000028
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Erythema
Frequent (30-79%)HP:0010783
Flat, discolored area of skin
Frequent (30-79%)HP:0012733
Hyperpigmented macules
Frequent (30-79%)HP:0001034
Hypopigmented skin patches
Frequent (30-79%)HP:0001053
Papilloma
Frequent (30-79%)HP:0012740
Sensorineural deafness
Frequent (30-79%)HP:0000407
Related Conditions
Xeroderma pigmentosum, group B(child)
Xeroderma pigmentosum, group C(child)
Xeroderma pigmentosum, group G(child)
Xeroderma pigmentosum, group F(child)
Xeroderma pigmentosum, group A(child)
Xeroderma pigmentosum, group E(child)
Xeroderma pigmentosum, group D(child)
Non-neurologic xeroderma pigmentosum(child)
Xeroderma pigmentosum, variant form(child)
Xeroderma pigmentosum and Cockayne syndrome complex(child)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Xeroderma(parent)
Hereditary neoplastic syndrome(parent)
Genetic disorder of skin pigmentation(parent)
Skin deposits(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 44600005
- UMLS CUI
- C0043346
- Fully Specified Name
- Xeroderma pigmentosum (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.